Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease

Zeitlin, A. A., Heward, J. M., Newby, P. R. , Carr-Smith, J. D., Franklyn, J. A., Gough, S. C. L. and Simmonds, M. J. (2008) Analysis of HLA class II genes in Hashimoto's thyroiditis reveals differences compared to Graves' disease. Genes and Immunity, 9 (4). pp. 358-363. ISSN 1466-4879

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Graves' disease (GD) and Hashimoto's thyroiditis (HT) represent the commonest forms of autoimmune thyroid disease (AITD) each presenting with distinct clinical features. Progress has been made in determining association of HLA class II DRB1, DQB1 and DQA1 loci with GD demonstrating a predisposing effect for DR3 (DRB1*03-DQB1*02-DQA1*05) and a protective effect for DR7 (DRB1*07-DQB1*02-DQA1*02). Small data sets have hindered progress in determining HLA class II associations with HT. The aim of this study was to investigate DRB1-DQB1-DQA1 in the largest UK Caucasian HT case control cohort to date comprising 640 HT patients and 621 controls. A strong association between HT and DR4 (DRB1*04-DQB1*03-DQA1*03) was detected (P = 6.79 � 10-7, OR = 1.98 (95 CI = 1.51-2.59)); however, only borderline association of DR3 was found (P=0.050). Protective effects were also detected for DR13 (DRB1*13-DQB1*06-DQA1*01) (P = 0.001, OR = 0.61 (95 CI = 0.45-0.83)) and DR7 (P = 0.013, OR = 0.70 (95 CI = 0.53-0.93)). Analysis of our unique cohort of subjects with well characterized AITD has demonstrated clear differences in association within the HLA class II region between HT and GD. Although HT and GD share a number of common genetic markers this study supports the suggestion that differences in HLA class II genotype may, in part, contribute to the different immunopathological processes and clinical presentation of these related diseases.

Keywords:HLA antigen, HLA antigen class 2, HLA DQA1 antigen, HLA DQB1 antigen, HLA DR antigen, HLA DR13 antigen, HLA DR15 antigen, HLA DR3 antigen, HLA DR4 antigen, HLA DR7 antigen, hla dr8 antigen, antigen detection, antigen function, article, case control study, Caucasian, controlled study, disease association, disease course, gene frequency, gene locus, genetic marker, genetic predisposition, genetic variability, genotype phenotype correlation, Graves disease, haplotype, Hashimoto disease, human, immunopathology, major clinical study, priority journal, promoter region, Alleles, Case-Control Studies, Chi-Square Distribution, Cohort Studies, Confidence Intervals, European Continental Ancestry Group, Genetic Predisposition to Disease, Genotype, Great Britain, Haplotypes, HLA-DQ Antigens, HLA-DR Antigens, Humans, Linkage Disequilibrium, Odds Ratio
Subjects:C Biological Sciences > C420 Human Genetics
Divisions:College of Science > School of Life Sciences
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ID Code:22619
Deposited On:19 Mar 2016 22:18

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